Stem Cell Research (Dec 2020)

Establishment of an induced pluripotent stem cell line (ICGi026-A) from peripheral blood mononuclear cells of a patient with fragile X syndrome

  • M.M. Gridina,
  • P.A. Orlova,
  • J.M. Minina,
  • E.M. Shitik,
  • N.A. Lemskaya,
  • I.V. Grishchenko,
  • A.A. Dolskiy,
  • A.R. Shorina,
  • Y.V. Maksimova,
  • D.V. Yudkin,
  • O.L. Serov

Journal volume & issue
Vol. 49
p. 102070

Abstract

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Expansion over 200 CGG repeats in FMR1 gene causes inherited intellectual disability or autism spectrum disorder named as fragile X syndrome. Despite the known cause fragile X syndrome pathogenesis has not been specified yet. The ICGi026-A iPSCs line was obtained by the reprogramming of the peripheral blood mononuclear cells from a 9-year-old boy with fragile X syndrome. The ICGi026-A iPSCs expressed pluripotency markers, had a normal male karyotype (46, XY) and had the capacity to in vivo differentiate into the cells of three germ layers.